Canonical Allele Identifier: CA1732870522

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107931377G= , CM000669.2:g.107931377G= GRCh38
NC_000007.13:g.107571822G= , CM000669.1:g.107571822G= GRCh37
NC_000007.12:g.107359058G= NCBI36
NG_023255.1:g.76983C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000222399.11:c.4516C= (LAMB1) MANE Select ENSP00000222399.6:p.Gln1506=
ENST00000393561.6:c.4105C= (LAMB1) ENSP00000377191.2:p.Gln1369=
ENST00000468518.2:n.2750C= (LAMB1)
ENST00000468999.2:n.2664C= (LAMB1)
ENST00000474380.2:n.1331C= (LAMB1)
ENST00000676574.1:c.*432C= (LAMB1) ENSP00000503081.1:n.*432C=
ENST00000676744.1:n.362C= (LAMB1)
ENST00000676777.1:c.4516C= (LAMB1) ENSP00000504756.1:p.Gln1506=
ENST00000677101.1:c.*4152C= (LAMB1) ENSP00000503156.1:n.*4152C=
ENST00000677144.1:c.*1335C= (LAMB1) ENSP00000503049.1:n.*1335C=
ENST00000677485.1:n.5740C= (LAMB1)
ENST00000677588.1:c.*747C= (LAMB1) ENSP00000502938.1:n.*747C=
ENST00000677793.1:c.4204C= (LAMB1) ENSP00000504020.1:p.Gln1402=
ENST00000677801.1:c.*345C= (LAMB1) ENSP00000503438.1:n.*345C=
ENST00000677883.1:n.27C= (LAMB1)
ENST00000678232.1:n.4705C= (LAMB1)
ENST00000678310.1:n.2685C= (LAMB1)
ENST00000678698.1:c.*588C= (LAMB1) ENSP00000503198.1:n.*588C=
ENST00000678704.1:c.*3098C= (LAMB1) ENSP00000504589.1:n.*3098C=
ENST00000678892.1:c.*588C= (LAMB1) ENSP00000504841.1:n.*588C=
ENST00000679200.1:c.*588C= (LAMB1) ENSP00000503498.1:n.*588C=
ENST00000222399.10:c.4516C= (LAMB1) ENSP00000222399.6:p.Gln1506=
ENST00000393561.5:c.4588C= (LAMB1) ENSP00000377191.1:p.Gln1530=
ENST00000417551.5:c.*125-54G= (DLD) ENSP00000390667.1:n.*125-54G=
ENST00000468518.1:n.575C= (LAMB1)
ENST00000474380.1:n.753C= (LAMB1)
NM_002291.2:c.4516C= (LAMB1) NP_002282.2:p.Gln1506=
XM_017012201.1:c.4588C= (LAMB1) XP_016867690.1:p.Gln1530=
XR_001744756.1:n.5435C= (LAMB1)
NM_002291.3:c.4516C= (LAMB1) MANE Select NP_002282.2:p.Gln1506=